ClinVar Miner

Submissions for variant NM_014251.3(SLC25A13):c.674C>A (p.Ser225Ter)

dbSNP: rs80338719
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center RCV000006372 SCV000267505 pathogenic Citrullinemia type II 2016-03-18 criteria provided, single submitter reference population
Baylor Genetics RCV001004531 SCV001163578 pathogenic Neonatal intrahepatic cholestasis due to citrin deficiency criteria provided, single submitter clinical testing
Invitae RCV001247797 SCV001421241 pathogenic Citrin deficiency 2023-01-05 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 6004). This premature translational stop signal has been observed in individuals with citrin deficiency (PMID: 12512993, 16449956, 29659898). This variant is present in population databases (rs80338719, gnomAD 0.006%). This sequence change creates a premature translational stop signal (p.Ser225*) in the SLC25A13 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLC25A13 are known to be pathogenic (PMID: 10369257, 14680984, 27405544).
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV001004531 SCV002768493 pathogenic Neonatal intrahepatic cholestasis due to citrin deficiency 2022-03-31 criteria provided, single submitter clinical testing Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as pathogenic. The following criteria are met: 0102 - Loss of function is a known mechanism of disease in this gene and is associated with neonatal-onset citrullinemia type II (MIM# 605814) and adult-onset citrullinemia type II (MIM#603471). (I) 0106 - This gene is associated with autosomal recessive disease. (I) 0201 - Variant is predicted to cause nonsense-mediated decay (NMD) and loss of protein (premature termination codon is located at least 54 nucleotides upstream of the final exon-exon junction). (SP) 0251 - This variant is heterozygous. (I) 0304 - Variant is present in gnomAD (v2) <0.01 for a recessive condition (1 heterozygote, 0 homozygotes). (SP) 0801 - This variant has strong previous evidence of pathogenicity in unrelated individuals. This variant has been reported as pathogenic multiple times in ClinVar. It has also been reported in multiple individuals with citrin deficiency (PMID: 29659898; 34006251). (SP) 0701 - Other NMD predicted variants comparable to the one identified in this case have very strong previous evidence for pathogenicity (ClinVar). (SP) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign
Baylor Genetics RCV003472982 SCV004203619 pathogenic Citrullinemia, type II, adult-onset 2023-10-16 criteria provided, single submitter clinical testing
OMIM RCV000006372 SCV000026554 pathogenic Citrullinemia type II 1999-06-01 no assertion criteria provided literature only
GeneReviews RCV000006372 SCV000041263 not provided Citrullinemia type II no assertion provided literature only
Natera, Inc. RCV001826423 SCV002079388 pathogenic Citrullinemia 2020-05-18 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.